Canonical Allele Identifier: CA607888257
Gene: ACADS HGNC NCBI

Linked Data

dbSNP Id: rs1444807730
gnomAD v2: 12-121177511-TG-T
gnomAD v3: 12-120739708-TG-T
gnomAD v4: 12-120739708-TG-T
MyVariant Identifiers: chr12:g.121177512del (hg19) chr12:g.120739709del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120739715del , CM000674.2:g.120739715del GRCh38
NC_000012.11:g.121177518del , CM000674.1:g.121177518del GRCh37
NC_000012.10:g.119661901del NCBI36
NG_007991.1:g.18948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242592.9:c.*267del MANE Select ENSP00000242592.4:n.*267del
ENST00000242592.8:c.*267del ENSP00000242592.4:n.*267del
NM_000017.3:c.*267del NP_000008.1:n.*267del
NM_001302554.1:c.*267del NP_001289483.1:n.*267del
NM_000017.4:c.*267del MANE Select NP_000008.1:n.*267del
NM_001302554.2:c.*267del NP_001289483.1:n.*267del
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